VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia.

ABSTRACT:

Background

Alterations of vacuolar protein sorting-associated protein 13 (VPS13) family members including VPS13A, VPS13B, and VPS13C lead to chorea acanthocytosis, Cohen syndrome, and parkinsonism, respectively. Recently, VPS13D mutations were identified as a cause of VPS13D-related movement disorders, which show several phenotypes including chorea, dystonia, spastic ataxia, and spastic paraplegia.

Methods

We applied whole-exome analysis for a patient with a complicated form of hereditary spastic paraplegia (HSP) and her unaffected parents. Then, we screened the candidate genes in 664 Japanese families with HSP in Japan.

Results

We first found a compound heterozygote VPS13D mutation and a heterozygote ABHD4 variation in a sporadic patient with spastic paraplegia. Then

SUBMITTER: Koh K 

PROVIDER: S-EPMC7057107 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature